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Article

Identification of a novel missense mutation in Wilson's disease gene.

Chinese medical journal - 1 Nov 1997

Fan Y, Yang R, Yu L, Wu M, Shi S, Ren M, Han Y, Hu J, Zhao S

Abstract excerpt

OBJECTIVE: To investigate the allelic heterogeneity of the ATP7B gene in Chinese patients with Wilson's disease (WD). METHODS: Exons of the ATP7B gene from 141 WD patients' DNA were amplified with polymerase chain reaction (PCR) 887-890. Mutations were then screened by single strand conformation...

Topics

Adolescent
Adult
Base Sequence
Chromosomes, Human, Pair 13
Female
Hepatolenticular Degeneration
Humans
Male
Molecular Sequence Data
Mutation, Missense
Phenotype
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single-Stranded Conformational

Sequence Analysis, DNA

Source

Identifiers

PMID: 9772425

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9772425-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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